Variant report

Variant	nsv516852
Chromosome Location	chr3:89402447-89442369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
2	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
3	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:
4	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:

Extended variants
information (count: 1741 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1741 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2063589	chr3:89402447-89402448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549650063	chr3:89402456-89402457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534945336	chr3:89402460-89402461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138930445	chr3:89402462-89402463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6783533	chr3:89402467-89402468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553219751	chr3:89402468-89402469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571699578	chr3:89402471-89402472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538498854	chr3:89402486-89402487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141534234	chr3:89402490-89402491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112694660	chr3:89402491-89402492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150885782	chr3:89402532-89402533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542524599	chr3:89402541-89402542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554411119	chr3:89402595-89402596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572775592	chr3:89402600-89402601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540201468	chr3:89402613-89402614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564861603	chr3:89402616-89402617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532223220	chr3:89402632-89402633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78083230	chr3:89402704-89402705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563874194	chr3:89402721-89402722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116897345	chr3:89402735-89402736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553253878	chr3:89402745-89402746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373197338	chr3:89402861-89402862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6809693	chr3:89402862-89402863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546964923	chr3:89402951-89402952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571697279	chr3:89403017-89403018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376115797	chr3:89403024-89403025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113091631	chr3:89403043-89403044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76703044	chr3:89403044-89403045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372812819	chr3:89403062-89403063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73846145	chr3:89403077-89403078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180792144	chr3:89403103-89403104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9875564	chr3:89403144-89403145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187312161	chr3:89403211-89403212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539827045	chr3:89403213-89403214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558522511	chr3:89403296-89403297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79252935	chr3:89403298-89403299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535883408	chr3:89403364-89403365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544335392	chr3:89403375-89403376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554630370	chr3:89403383-89403384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562535066	chr3:89403397-89403398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192149055	chr3:89403398-89403399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543228510	chr3:89403421-89403422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183478910	chr3:89403425-89403426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150072261	chr3:89403430-89403431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188481064	chr3:89403454-89403455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370324627	chr3:89403468-89403469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73846146	chr3:89403504-89403505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532366460	chr3:89403587-89403588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7645954	chr3:89403604-89403605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568986019	chr3:89403609-89403610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89392600-89417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:89402200-89403200	Enhancers	Hela-S3	cervix
3	chr3:89404400-89417600	Weak transcription	Brain Germinal Matrix	brain
4	chr3:89407400-89407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:89407800-89409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:89409000-89409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:89409200-89409400	Enhancers	Fetal Lung	lung
8	chr3:89409200-89409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:89409200-89409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:89409200-89409800	Enhancers	Hela-S3	cervix
11	chr3:89409200-89410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:89409400-89409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:89409400-89410000	Enhancers	NHDF-Ad	bronchial
14	chr3:89409400-89410600	Weak transcription	Fetal Lung	lung
15	chr3:89409600-89410000	Enhancers	NH-A	brain
16	chr3:89410200-89410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:89410200-89410400	Enhancers	Fetal Brain Female	brain
18	chr3:89410400-89412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
20	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
21	chr3:89411600-89411800	Enhancers	Fetal Muscle Leg	muscle
22	chr3:89411800-89412600	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
25	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:89413400-89413800	Enhancers	Ovary	ovary
27	chr3:89413400-89415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:89414000-89418000	Weak transcription	Fetal Lung	lung
29	chr3:89415800-89417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:89417200-89417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:89417200-89418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:89417400-89417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:89417600-89417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:89417600-89418000	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:89418000-89418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:89418000-89421000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:89420800-89422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:89421000-89421600	Enhancers	Brain Germinal Matrix	brain
40	chr3:89421000-89422800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:89421200-89421600	Enhancers	Fetal Brain Female	brain
42	chr3:89421200-89421600	Enhancers	NH-A	brain
43	chr3:89421200-89421800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:89421200-89422400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:89421400-89421800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:89421400-89421800	Enhancers	Osteobl	bone
47	chr3:89421400-89422200	Enhancers	NHDF-Ad	bronchial
48	chr3:89421400-89422400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:89421600-89422000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:89421600-89422000	Weak transcription	Brain Germinal Matrix	brain

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